Francois Hendrikus van der Westhuizen

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Metabolomic analysis of the urinary organic acids from 39 selected children with defined respiratory chain deficiencies (RCDs) was performed using untargeted gas chromatography–mass spectrometry, revealing the presence of 255 endogenous and 46 exogenous substances. Variable reduction identified 92 variables from the endogenous substances, which could be(More)
Elevated urinary excretion of 3-methylglutaconic acid is considered rare in patients suspected of a metabolic disorder. In 3-methylglutaconyl-CoA hydratase deficiency (mutations in AUH), it derives from leucine degradation. In all other disorders with 3-methylglutaconic aciduria the origin is unknown, yet mitochondrial dysfunction is thought to be the(More)
Mitochondrial disorders are frequently encountered inherited diseases characterized by unexplained multisystem involvement with a chronic, intermittent, or progressive nature. The objective of this paper is to describe the profile of patients with mitochondrial disorders in South Africa. Patients with possible mitochondrial disorders were accessed over 10(More)
A young, adult, African male patient presented with progressive proximal muscle weakness, external ophthalmoplegia and ptosis, as well as cardiac conduction abnormalities resembling Kearns–Sayre syndrome (KSS). Magnetic resonance imaging (MRI) of the brain revealed normal basal ganglia but bilateral well-circumscribed lesions in the cerebellar peduncles.(More)
Mitochondrial diseases are a heterogeneous group of disorders characterised by impaired mitochondrial oxidative phosphorylation system. Most often for mitochondrial disease, where no metabolic diagnostic biomarkers exist, a deficiency is diagnosed after analysing the respiratory chain enzymes (complexes I-IV) in affected tissues or by identifying one of an(More)
The diagnosis of respiratory chain deficiencies (RCDs) is complicated and the need for a diagnostic biomarker or biosignature has been widely expressed. In this study, the metabolic profile of a selected group of 29 RCD patients, with a predominantly muscle disease phenotype, and 22 controls were investigated using targeted and untargeted analyses of three(More)
Metallothioneins (MTs) are ubiquitous, multi-functional proteins with key roles in metal homeostasis and redox regulation. Their involvement in cellular energy metabolism is evident from the observation that metallothionein-knockout (MTKO) mice become moderately obese. Transcriptomic studies have also indicated that several genes associated with energy(More)
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